Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.162103948G>ACA3544802GABRG2n.653G>A
c.811G>A (p.Asp271Asn)
n.582G>A
n.774G>A
c.406G>A (p.Asp136Asn)
c.691G>A (p.Asp231Asn)
n.753G>A
n.568G>A
c.82G>A (p.Asp28Asn)
n.619G>A (p.Asp207Asn)
c.107+35842G>A (p.=)
c.625G>A (p.Asp209Asn)
n.3222G>A
n.129G>A
c.604G>A (p.Asp202Asn)
n.691G>A (p.Asp231Asn)
c.*293G>A (p.=)
n.812G>A (p.=)
c.682G>A (p.Asp228Asn)
c.271G>A (p.Asp91Asn)
ClinVar dbSNP ExAC gnomAD COSMIC
5g.162103948G>CCA362185092GABRG2n.653G>C
c.811G>C (p.Asp271His)
n.582G>C
n.774G>C
c.406G>C (p.Asp136His)
c.691G>C (p.Asp231His)
n.753G>C
n.568G>C
c.82G>C (p.Asp28His)
n.619G>C (p.Asp207His)
c.107+35842G>C (p.=)
c.625G>C (p.Asp209His)
n.3222G>C
n.129G>C
c.604G>C (p.Asp202His)
n.691G>C (p.Asp231His)
c.*293G>C (p.=)
n.812G>C (p.=)
c.682G>C (p.Asp228His)
c.271G>C (p.Asp91His)
5g.162103948G=CA1596365217GABRG2n.653G=
c.811G= (p.Asp271=)
n.582G=
n.774G=
c.406G= (p.Asp136=)
c.691G= (p.Asp231=)
n.753G=
n.568G=
c.82G= (p.Asp28=)
n.619G= (p.Asp207=)
c.107+35842G= (p.=)
c.625G= (p.Asp209=)
n.3222G=
n.129G=
c.604G= (p.Asp202=)
n.691G= (p.Asp231=)
c.*293G= (p.=)
n.812G= (p.=)
c.682G= (p.Asp228=)
c.271G= (p.Asp91=)
5g.162103948G>TCA362185093GABRG2n.653G>T
c.811G>T (p.Asp271Tyr)
n.582G>T
n.774G>T
c.406G>T (p.Asp136Tyr)
c.691G>T (p.Asp231Tyr)
n.753G>T
n.568G>T
c.82G>T (p.Asp28Tyr)
n.619G>T (p.Asp207Tyr)
c.107+35842G>T (p.=)
c.625G>T (p.Asp209Tyr)
n.3222G>T
n.129G>T
c.604G>T (p.Asp202Tyr)
n.691G>T (p.Asp231Tyr)
c.*293G>T (p.=)
n.812G>T (p.=)
c.682G>T (p.Asp228Tyr)
c.271G>T (p.Asp91Tyr)
5g.162103949A>CCA362185094GABRG2n.654A>C
c.812A>C (p.Asp271Ala)
n.583A>C
n.775A>C
c.407A>C (p.Asp136Ala)
c.692A>C (p.Asp231Ala)
n.754A>C
n.569A>C
c.83A>C (p.Asp28Ala)
n.620A>C (p.Asp207Ala)
c.107+35843A>C (p.=)
c.626A>C (p.Asp209Ala)
n.3223A>C
n.130A>C
c.605A>C (p.Asp202Ala)
n.692A>C (p.Asp231Ala)
c.*294A>C (p.=)
n.813A>C (p.=)
c.683A>C (p.Asp228Ala)
c.272A>C (p.Asp91Ala)
5g.162103949A>GCA362185095GABRG2n.654A>G
c.812A>G (p.Asp271Gly)
n.583A>G
n.775A>G
c.407A>G (p.Asp136Gly)
c.692A>G (p.Asp231Gly)
n.754A>G
n.569A>G
c.83A>G (p.Asp28Gly)
n.620A>G (p.Asp207Gly)
c.107+35843A>G (p.=)
c.626A>G (p.Asp209Gly)
n.3223A>G
n.130A>G
c.605A>G (p.Asp202Gly)
n.692A>G (p.Asp231Gly)
c.*294A>G (p.=)
n.813A>G (p.=)
c.683A>G (p.Asp228Gly)
c.272A>G (p.Asp91Gly)
5g.162103949A>TCA362185096GABRG2n.654A>T
c.812A>T (p.Asp271Val)
n.583A>T
n.775A>T
c.407A>T (p.Asp136Val)
c.692A>T (p.Asp231Val)
n.754A>T
n.569A>T
c.83A>T (p.Asp28Val)
n.620A>T (p.Asp207Val)
c.107+35843A>T (p.=)
c.626A>T (p.Asp209Val)
n.3223A>T
n.130A>T
c.605A>T (p.Asp202Val)
n.692A>T (p.Asp231Val)
c.*294A>T (p.=)
n.813A>T (p.=)
c.683A>T (p.Asp228Val)
c.272A>T (p.Asp91Val)
5g.162103950C>ACA362185098GABRG2n.655C>A
c.813C>A (p.Asp271Glu)
n.584C>A
n.776C>A
c.408C>A (p.Asp136Glu)
c.693C>A (p.Asp231Glu)
n.755C>A
n.570C>A
c.84C>A (p.Asp28Glu)
n.621C>A (p.Asp207Glu)
c.107+35844C>A (p.=)
c.627C>A (p.Asp209Glu)
n.3224C>A
n.131C>A
c.606C>A (p.Asp202Glu)
n.693C>A (p.Asp231Glu)
c.*295C>A (p.=)
n.814C>A (p.=)
c.684C>A (p.Asp228Glu)
c.273C>A (p.Asp91Glu)
5g.162103950C>GCA362185097GABRG2n.655C>G
c.813C>G (p.Asp271Glu)
n.584C>G
n.776C>G
c.408C>G (p.Asp136Glu)
c.693C>G (p.Asp231Glu)
n.755C>G
n.570C>G
c.84C>G (p.Asp28Glu)
n.621C>G (p.Asp207Glu)
c.107+35844C>G (p.=)
c.627C>G (p.Asp209Glu)
n.3224C>G
n.131C>G
c.606C>G (p.Asp202Glu)
n.693C>G (p.Asp231Glu)
c.*295C>G (p.=)
n.814C>G (p.=)
c.684C>G (p.Asp228Glu)
c.273C>G (p.Asp91Glu)
5g.162103950C>TCA447609970GABRG2n.655C>T
c.813C>T (p.Asp271=)
n.584C>T
n.776C>T
c.408C>T (p.Asp136=)
c.693C>T (p.Asp231=)
n.755C>T
n.570C>T
c.84C>T (p.Asp28=)
n.621C>T (p.Asp207=)
c.107+35844C>T (p.=)
c.627C>T (p.Asp209=)
n.3224C>T
n.131C>T
c.606C>T (p.Asp202=)
n.693C>T (p.Asp231=)
c.*295C>T (p.=)
n.814C>T (p.=)
c.684C>T (p.Asp228=)
c.273C>T (p.Asp91=)
5g.162103951A>CCA362185099GABRG2n.656A>C
c.814A>C (p.Thr272Pro)
n.585A>C
n.777A>C
c.409A>C (p.Thr137Pro)
c.694A>C (p.Thr232Pro)
n.756A>C
n.571A>C
c.85A>C (p.Thr29Pro)
n.622A>C (p.Thr208Pro)
c.107+35845A>C (p.=)
c.628A>C (p.Thr210Pro)
n.3225A>C
n.132A>C
c.607A>C (p.Thr203Pro)
n.694A>C (p.Thr232Pro)
c.*296A>C (p.=)
n.815A>C (p.=)
c.685A>C (p.Thr229Pro)
c.274A>C (p.Thr92Pro)
5g.162103951A>GCA362185100GABRG2n.656A>G
c.814A>G (p.Thr272Ala)
n.585A>G
n.777A>G
c.409A>G (p.Thr137Ala)
c.694A>G (p.Thr232Ala)
n.756A>G
n.571A>G
c.85A>G (p.Thr29Ala)
n.622A>G (p.Thr208Ala)
c.107+35845A>G (p.=)
c.628A>G (p.Thr210Ala)
n.3225A>G
n.132A>G
c.607A>G (p.Thr203Ala)
n.694A>G (p.Thr232Ala)
c.*296A>G (p.=)
n.815A>G (p.=)
c.685A>G (p.Thr229Ala)
c.274A>G (p.Thr92Ala)
5g.162103951A>TCA362185101GABRG2n.656A>T
c.814A>T (p.Thr272Ser)
n.585A>T
n.777A>T
c.409A>T (p.Thr137Ser)
c.694A>T (p.Thr232Ser)
n.756A>T
n.571A>T
c.85A>T (p.Thr29Ser)
n.622A>T (p.Thr208Ser)
c.107+35845A>T (p.=)
c.628A>T (p.Thr210Ser)
n.3225A>T
n.132A>T
c.607A>T (p.Thr203Ser)
n.694A>T (p.Thr232Ser)
c.*296A>T (p.=)
n.815A>T (p.=)
c.685A>T (p.Thr229Ser)
c.274A>T (p.Thr92Ser)
5g.162103952C>ACA362185102GABRG2n.657C>A
c.815C>A (p.Thr272Lys)
n.586C>A
n.778C>A
c.410C>A (p.Thr137Lys)
c.695C>A (p.Thr232Lys)
n.757C>A
n.572C>A
c.86C>A (p.Thr29Lys)
n.623C>A (p.Thr208Lys)
c.107+35846C>A (p.=)
c.629C>A (p.Thr210Lys)
n.3226C>A
n.133C>A
c.608C>A (p.Thr203Lys)
n.695C>A (p.Thr232Lys)
c.*297C>A (p.=)
n.816C>A (p.=)
c.686C>A (p.Thr229Lys)
c.275C>A (p.Thr92Lys)
5g.162103952C>GCA362185103GABRG2n.657C>G
c.815C>G (p.Thr272Arg)
n.586C>G
n.778C>G
c.410C>G (p.Thr137Arg)
c.695C>G (p.Thr232Arg)
n.757C>G
n.572C>G
c.86C>G (p.Thr29Arg)
n.623C>G (p.Thr208Arg)
c.107+35846C>G (p.=)
c.629C>G (p.Thr210Arg)
n.3226C>G
n.133C>G
c.608C>G (p.Thr203Arg)
n.695C>G (p.Thr232Arg)
c.*297C>G (p.=)
n.816C>G (p.=)
c.686C>G (p.Thr229Arg)
c.275C>G (p.Thr92Arg)
5g.162103952C>TCA362185104GABRG2n.657C>T
c.815C>T (p.Thr272Ile)
n.586C>T
n.778C>T
c.410C>T (p.Thr137Ile)
c.695C>T (p.Thr232Ile)
n.757C>T
n.572C>T
c.86C>T (p.Thr29Ile)
n.623C>T (p.Thr208Ile)
c.107+35846C>T (p.=)
c.629C>T (p.Thr210Ile)
n.3226C>T
n.133C>T
c.608C>T (p.Thr203Ile)
n.695C>T (p.Thr232Ile)
c.*297C>T (p.=)
n.816C>T (p.=)
c.686C>T (p.Thr229Ile)
c.275C>T (p.Thr92Ile)
5g.162103952_162103953delinsCACA1596365218GABRG2n.657_658delinsCA
c.815_816delinsCA (p.Thr272=)
n.586_587delinsCA
n.778_779delinsCA
c.410_411delinsCA (p.Thr137=)
c.695_696delinsCA (p.Thr232=)
n.757_758delinsCA
n.572_573delinsCA
c.86_87delinsCA (p.Thr29=)
n.623_624delinsCA (p.Thr208=)
c.107+35846_107+35847delinsCA (p.=)
c.629_630delinsCA (p.Thr210=)
n.3226_3227delinsCA
n.133_134delinsCA
c.608_609delinsCA (p.Thr203=)
n.695_696delinsCA (p.Thr232=)
c.*297_*298delinsCA (p.=)
n.816_817delinsCA (p.=)
c.686_687delinsCA (p.Thr229=)
c.275_276delinsCA (p.Thr92=)
5g.162103953A=CA1596365219GABRG2n.658A=
c.816A= (p.Thr272=)
n.587A=
n.779A=
c.411A= (p.Thr137=)
c.696A= (p.Thr232=)
n.758A=
n.573A=
c.87A= (p.Thr29=)
n.624A= (p.Thr208=)
c.107+35847A= (p.=)
c.630A= (p.Thr210=)
n.3227A=
n.134A=
c.609A= (p.Thr203=)
n.696A= (p.Thr232=)
c.*298A= (p.=)
n.817A= (p.=)
c.687A= (p.Thr229=)
c.276A= (p.Thr92=)
5g.162103953A>CCA447609972GABRG2n.658A>C
c.816A>C (p.Thr272=)
n.587A>C
n.779A>C
c.411A>C (p.Thr137=)
c.696A>C (p.Thr232=)
n.758A>C
n.573A>C
c.87A>C (p.Thr29=)
n.624A>C (p.Thr208=)
c.107+35847A>C (p.=)
c.630A>C (p.Thr210=)
n.3227A>C
n.134A>C
c.609A>C (p.Thr203=)
n.696A>C (p.Thr232=)
c.*298A>C (p.=)
n.817A>C (p.=)
c.687A>C (p.Thr229=)
c.276A>C (p.Thr92=)
5g.162103953A>GCA447609973GABRG2n.658A>G
c.816A>G (p.Thr272=)
n.587A>G
n.779A>G
c.411A>G (p.Thr137=)
c.696A>G (p.Thr232=)
n.758A>G
n.573A>G
c.87A>G (p.Thr29=)
n.624A>G (p.Thr208=)
c.107+35847A>G (p.=)
c.630A>G (p.Thr210=)
n.3227A>G
n.134A>G
c.609A>G (p.Thr203=)
n.696A>G (p.Thr232=)
c.*298A>G (p.=)
n.817A>G (p.=)
c.687A>G (p.Thr229=)
c.276A>G (p.Thr92=)
gnomAD
5g.162103953A>TCA447609974GABRG2n.658A>T
c.816A>T (p.Thr272=)
n.587A>T
n.779A>T
c.411A>T (p.Thr137=)
c.696A>T (p.Thr232=)
n.758A>T
n.573A>T
c.87A>T (p.Thr29=)
n.624A>T (p.Thr208=)
c.107+35847A>T (p.=)
c.630A>T (p.Thr210=)
n.3227A>T
n.134A>T
c.609A>T (p.Thr203=)
n.696A>T (p.Thr232=)
c.*298A>T (p.=)
n.817A>T (p.=)
c.687A>T (p.Thr229=)
c.276A>T (p.Thr92=)
5g.162103954delCA1139659244GABRG2n.659del
c.817del (p.Arg273AspfsTer13)
n.588del
n.780del
c.412del (p.Arg138AspfsTer13)
c.697del (p.Arg233AspfsTer13)
n.759del
n.574del
c.88del (p.Arg30AspfsTer13)
n.625del (p.Arg209AspfsTer13)
c.107+35848del (p.=)
c.631del (p.Arg211AspfsTer13)
n.3228del
n.135del
c.610del (p.Arg204AspfsTer13)
n.697del (p.Arg233AspfsTer13)
c.*299del (p.=)
n.818del (p.=)
c.688del (p.Arg230AspfsTer13)
c.277del (p.Arg93AspfsTer13)
ClinVar dbSNP
5g.162103954A>CCA447609975GABRG2n.659A>C
c.817A>C (p.Arg273=)
n.588A>C
n.780A>C
c.412A>C (p.Arg138=)
c.697A>C (p.Arg233=)
n.759A>C
n.574A>C
c.88A>C (p.Arg30=)
n.625A>C (p.Arg209=)
c.107+35848A>C (p.=)
c.631A>C (p.Arg211=)
n.3228A>C
n.135A>C
c.610A>C (p.Arg204=)
n.697A>C (p.Arg233=)
c.*299A>C (p.=)
n.818A>C (p.=)
c.688A>C (p.Arg230=)
c.277A>C (p.Arg93=)
5g.162103954A>GCA362185105GABRG2n.659A>G
c.817A>G (p.Arg273Gly)
n.588A>G
n.780A>G
c.412A>G (p.Arg138Gly)
c.697A>G (p.Arg233Gly)
n.759A>G
n.574A>G
c.88A>G (p.Arg30Gly)
n.625A>G (p.Arg209Gly)
c.107+35848A>G (p.=)
c.631A>G (p.Arg211Gly)
n.3228A>G
n.135A>G
c.610A>G (p.Arg204Gly)
n.697A>G (p.Arg233Gly)
c.*299A>G (p.=)
n.818A>G (p.=)
c.688A>G (p.Arg230Gly)
c.277A>G (p.Arg93Gly)
5g.162103954A>TCA362185106GABRG2n.659A>T
c.817A>T (p.Arg273Ter)
n.588A>T
n.780A>T
c.412A>T (p.Arg138Ter)
c.697A>T (p.Arg233Ter)
n.759A>T
n.574A>T
c.88A>T (p.Arg30Ter)
n.625A>T (p.Arg209Ter)
c.107+35848A>T (p.=)
c.631A>T (p.Arg211Ter)
n.3228A>T
n.135A>T
c.610A>T (p.Arg204Ter)
n.697A>T (p.Arg233Ter)
c.*299A>T (p.=)
n.818A>T (p.=)
c.688A>T (p.Arg230Ter)
c.277A>T (p.Arg93Ter)
5g.162103955G>ACA362185107GABRG2n.660G>A
c.818G>A (p.Arg273Lys)
n.589G>A
n.781G>A
c.413G>A (p.Arg138Lys)
c.698G>A (p.Arg233Lys)
n.760G>A
n.575G>A
c.89G>A (p.Arg30Lys)
n.626G>A (p.Arg209Lys)
c.107+35849G>A (p.=)
c.632G>A (p.Arg211Lys)
n.3229G>A
n.136G>A
c.611G>A (p.Arg204Lys)
n.698G>A (p.Arg233Lys)
c.*300G>A (p.=)
n.819G>A (p.=)
c.689G>A (p.Arg230Lys)
c.278G>A (p.Arg93Lys)
5g.162103955G>CCA362185108GABRG2n.660G>C
c.818G>C (p.Arg273Thr)
n.589G>C
n.781G>C
c.413G>C (p.Arg138Thr)
c.698G>C (p.Arg233Thr)
n.760G>C
n.575G>C
c.89G>C (p.Arg30Thr)
n.626G>C (p.Arg209Thr)
c.107+35849G>C (p.=)
c.632G>C (p.Arg211Thr)
n.3229G>C
n.136G>C
c.611G>C (p.Arg204Thr)
n.698G>C (p.Arg233Thr)
c.*300G>C (p.=)
n.819G>C (p.=)
c.689G>C (p.Arg230Thr)
c.278G>C (p.Arg93Thr)
5g.162103955G=CA1596365220GABRG2n.660G=
c.818G= (p.Arg273=)
n.589G=
n.781G=
c.413G= (p.Arg138=)
c.698G= (p.Arg233=)
n.760G=
n.575G=
c.89G= (p.Arg30=)
n.626G= (p.Arg209=)
c.107+35849G= (p.=)
c.632G= (p.Arg211=)
n.3229G=
n.136G=
c.611G= (p.Arg204=)
n.698G= (p.Arg233=)
c.*300G= (p.=)
n.819G= (p.=)
c.689G= (p.Arg230=)
c.278G= (p.Arg93=)
5g.162103955G>TCA362185109GABRG2n.660G>T
c.818G>T (p.Arg273Ile)
n.589G>T
n.781G>T
c.413G>T (p.Arg138Ile)
c.698G>T (p.Arg233Ile)
n.760G>T
n.575G>T
c.89G>T (p.Arg30Ile)
n.626G>T (p.Arg209Ile)
c.107+35849G>T (p.=)
c.632G>T (p.Arg211Ile)
n.3229G>T
n.136G>T
c.611G>T (p.Arg204Ile)
n.698G>T (p.Arg233Ile)
c.*300G>T (p.=)
n.819G>T (p.=)
c.689G>T (p.Arg230Ile)
c.278G>T (p.Arg93Ile)
COSMIC
5g.162103956A>CCA362185110GABRG2n.661A>C
c.819A>C (p.Arg273Ser)
n.590A>C
n.782A>C
c.414A>C (p.Arg138Ser)
c.699A>C (p.Arg233Ser)
n.761A>C
n.576A>C
c.90A>C (p.Arg30Ser)
n.627A>C (p.Arg209Ser)
c.107+35850A>C (p.=)
c.633A>C (p.Arg211Ser)
n.3230A>C
n.137A>C
c.612A>C (p.Arg204Ser)
n.699A>C (p.Arg233Ser)
c.*301A>C (p.=)
n.820A>C (p.=)
c.690A>C (p.Arg230Ser)
c.279A>C (p.Arg93Ser)
5g.162103956A>GCA447609977GABRG2n.661A>G
c.819A>G (p.Arg273=)
n.590A>G
n.782A>G
c.414A>G (p.Arg138=)
c.699A>G (p.Arg233=)
n.761A>G
n.576A>G
c.90A>G (p.Arg30=)
n.627A>G (p.Arg209=)
c.107+35850A>G (p.=)
c.633A>G (p.Arg211=)
n.3230A>G
n.137A>G
c.612A>G (p.Arg204=)
n.699A>G (p.Arg233=)
c.*301A>G (p.=)
n.820A>G (p.=)
c.690A>G (p.Arg230=)
c.279A>G (p.Arg93=)
5g.162103956A>TCA362185111GABRG2n.661A>T
c.819A>T (p.Arg273Ser)
n.590A>T
n.782A>T
c.414A>T (p.Arg138Ser)
c.699A>T (p.Arg233Ser)
n.761A>T
n.576A>T
c.90A>T (p.Arg30Ser)
n.627A>T (p.Arg209Ser)
c.107+35850A>T (p.=)
c.633A>T (p.Arg211Ser)
n.3230A>T
n.137A>T
c.612A>T (p.Arg204Ser)
n.699A>T (p.Arg233Ser)
c.*301A>T (p.=)
n.820A>T (p.=)
c.690A>T (p.Arg230Ser)
c.279A>T (p.Arg93Ser)
COSMIC
5g.162103957T>ACA362185112GABRG2n.662T>A
c.820T>A (p.Ser274Thr)
n.591T>A
n.783T>A
c.415T>A (p.Ser139Thr)
c.700T>A (p.Ser234Thr)
n.762T>A
n.577T>A
c.91T>A (p.Ser31Thr)
n.628T>A (p.Ser210Thr)
c.107+35851T>A (p.=)
c.634T>A (p.Ser212Thr)
n.3231T>A
n.138T>A
c.613T>A (p.Ser205Thr)
n.700T>A (p.Ser234Thr)
c.*302T>A (p.=)
n.821T>A (p.=)
c.691T>A (p.Ser231Thr)
c.280T>A (p.Ser94Thr)
5g.162103957T>CCA362185114GABRG2n.662T>C
c.820T>C (p.Ser274Pro)
n.591T>C
n.783T>C
c.415T>C (p.Ser139Pro)
c.700T>C (p.Ser234Pro)
n.762T>C
n.577T>C
c.91T>C (p.Ser31Pro)
n.628T>C (p.Ser210Pro)
c.107+35851T>C (p.=)
c.634T>C (p.Ser212Pro)
n.3231T>C
n.138T>C
c.613T>C (p.Ser205Pro)
n.700T>C (p.Ser234Pro)
c.*302T>C (p.=)
n.821T>C (p.=)
c.691T>C (p.Ser231Pro)
c.280T>C (p.Ser94Pro)
5g.162103957T>GCA362185113GABRG2n.662T>G
c.820T>G (p.Ser274Ala)
n.591T>G
n.783T>G
c.415T>G (p.Ser139Ala)
c.700T>G (p.Ser234Ala)
n.762T>G
n.577T>G
c.91T>G (p.Ser31Ala)
n.628T>G (p.Ser210Ala)
c.107+35851T>G (p.=)
c.634T>G (p.Ser212Ala)
n.3231T>G
n.138T>G
c.613T>G (p.Ser205Ala)
n.700T>G (p.Ser234Ala)
c.*302T>G (p.=)
n.821T>G (p.=)
c.691T>G (p.Ser231Ala)
c.280T>G (p.Ser94Ala)
5g.162103958C>ACA362185115GABRG2n.663C>A
c.821C>A (p.Ser274Tyr)
n.592C>A
n.784C>A
c.416C>A (p.Ser139Tyr)
c.701C>A (p.Ser234Tyr)
n.763C>A
n.578C>A
c.92C>A (p.Ser31Tyr)
n.629C>A (p.Ser210Tyr)
c.107+35852C>A (p.=)
c.635C>A (p.Ser212Tyr)
n.3232C>A
n.139C>A
c.614C>A (p.Ser205Tyr)
n.701C>A (p.Ser234Tyr)
c.*303C>A (p.=)
n.822C>A (p.=)
c.692C>A (p.Ser231Tyr)
c.281C>A (p.Ser94Tyr)
COSMIC
5g.162103958C>GCA362185117GABRG2n.663C>G
c.821C>G (p.Ser274Cys)
n.592C>G
n.784C>G
c.416C>G (p.Ser139Cys)
c.701C>G (p.Ser234Cys)
n.763C>G
n.578C>G
c.92C>G (p.Ser31Cys)
n.629C>G (p.Ser210Cys)
c.107+35852C>G (p.=)
c.635C>G (p.Ser212Cys)
n.3232C>G
n.139C>G
c.614C>G (p.Ser205Cys)
n.701C>G (p.Ser234Cys)
c.*303C>G (p.=)
n.822C>G (p.=)
c.692C>G (p.Ser231Cys)
c.281C>G (p.Ser94Cys)
5g.162103958C>TCA362185116GABRG2n.663C>T
c.821C>T (p.Ser274Phe)
n.592C>T
n.784C>T
c.416C>T (p.Ser139Phe)
c.701C>T (p.Ser234Phe)
n.763C>T
n.578C>T
c.92C>T (p.Ser31Phe)
n.629C>T (p.Ser210Phe)
c.107+35852C>T (p.=)
c.635C>T (p.Ser212Phe)
n.3232C>T
n.139C>T
c.614C>T (p.Ser205Phe)
n.701C>T (p.Ser234Phe)
c.*303C>T (p.=)
n.822C>T (p.=)
c.692C>T (p.Ser231Phe)
c.281C>T (p.Ser94Phe)
COSMIC
5g.162103959C>ACA447609980GABRG2n.664C>A
c.822C>A (p.Ser274=)
n.593C>A
n.785C>A
c.417C>A (p.Ser139=)
c.702C>A (p.Ser234=)
n.764C>A
n.579C>A
c.93C>A (p.Ser31=)
n.630C>A (p.Ser210=)
c.107+35853C>A (p.=)
c.636C>A (p.Ser212=)
n.3233C>A
n.140C>A
c.615C>A (p.Ser205=)
n.702C>A (p.Ser234=)
c.*304C>A (p.=)
n.823C>A (p.=)
c.693C>A (p.Ser231=)
c.282C>A (p.Ser94=)
5g.162103959C=CA1596365221GABRG2n.664C=
c.822C= (p.Ser274=)
n.593C=
n.785C=
c.417C= (p.Ser139=)
c.702C= (p.Ser234=)
n.764C=
n.579C=
c.93C= (p.Ser31=)
n.630C= (p.Ser210=)
c.107+35853C= (p.=)
c.636C= (p.Ser212=)
n.3233C=
n.140C=
c.615C= (p.Ser205=)
n.702C= (p.Ser234=)
c.*304C= (p.=)
n.823C= (p.=)
c.693C= (p.Ser231=)
c.282C= (p.Ser94=)
5g.162103959C>GCA447609981GABRG2n.664C>G
c.822C>G (p.Ser274=)
n.593C>G
n.785C>G
c.417C>G (p.Ser139=)
c.702C>G (p.Ser234=)
n.764C>G
n.579C>G
c.93C>G (p.Ser31=)
n.630C>G (p.Ser210=)
c.107+35853C>G (p.=)
c.636C>G (p.Ser212=)
n.3233C>G
n.140C>G
c.615C>G (p.Ser205=)
n.702C>G (p.Ser234=)
c.*304C>G (p.=)
n.823C>G (p.=)
c.693C>G (p.Ser231=)
c.282C>G (p.Ser94=)
5g.162103959C>TCA3544803GABRG2n.664C>T
c.822C>T (p.Ser274=)
n.593C>T
n.785C>T
c.417C>T (p.Ser139=)
c.702C>T (p.Ser234=)
n.764C>T
n.579C>T
c.93C>T (p.Ser31=)
n.630C>T (p.Ser210=)
c.107+35853C>T (p.=)
c.636C>T (p.Ser212=)
n.3233C>T
n.140C>T
c.615C>T (p.Ser205=)
n.702C>T (p.Ser234=)
c.*304C>T (p.=)
n.823C>T (p.=)
c.693C>T (p.Ser231=)
c.282C>T (p.Ser94=)
dbSNP ExAC
5g.162103960T>ACA362185118GABRG2n.665T>A
c.823T>A (p.Trp275Arg)
n.594T>A
n.786T>A
c.418T>A (p.Trp140Arg)
c.703T>A (p.Trp235Arg)
n.765T>A
n.580T>A
c.94T>A (p.Trp32Arg)
n.631T>A (p.Trp211Arg)
c.107+35854T>A (p.=)
c.637T>A (p.Trp213Arg)
n.3234T>A
n.141T>A
c.616T>A (p.Trp206Arg)
n.703T>A (p.Trp235Arg)
c.*305T>A (p.=)
n.824T>A (p.=)
c.694T>A (p.Trp232Arg)
c.283T>A (p.Trp95Arg)
5g.162103960T>CCA362185119GABRG2n.665T>C
c.823T>C (p.Trp275Arg)
n.594T>C
n.786T>C
c.418T>C (p.Trp140Arg)
c.703T>C (p.Trp235Arg)
n.765T>C
n.580T>C
c.94T>C (p.Trp32Arg)
n.631T>C (p.Trp211Arg)
c.107+35854T>C (p.=)
c.637T>C (p.Trp213Arg)
n.3234T>C
n.141T>C
c.616T>C (p.Trp206Arg)
n.703T>C (p.Trp235Arg)
c.*305T>C (p.=)
n.824T>C (p.=)
c.694T>C (p.Trp232Arg)
c.283T>C (p.Trp95Arg)
5g.162103960T>GCA362185120GABRG2n.665T>G
c.823T>G (p.Trp275Gly)
n.594T>G
n.786T>G
c.418T>G (p.Trp140Gly)
c.703T>G (p.Trp235Gly)
n.765T>G
n.580T>G
c.94T>G (p.Trp32Gly)
n.631T>G (p.Trp211Gly)
c.107+35854T>G (p.=)
c.637T>G (p.Trp213Gly)
n.3234T>G
n.141T>G
c.616T>G (p.Trp206Gly)
n.703T>G (p.Trp235Gly)
c.*305T>G (p.=)
n.824T>G (p.=)
c.694T>G (p.Trp232Gly)
c.283T>G (p.Trp95Gly)
5g.162103961G>ACA362185121GABRG2n.666G>A
c.824G>A (p.Trp275Ter)
n.595G>A
n.787G>A
c.419G>A (p.Trp140Ter)
c.704G>A (p.Trp235Ter)
n.766G>A
n.581G>A
c.95G>A (p.Trp32Ter)
n.632G>A (p.Trp211Ter)
c.107+35855G>A (p.=)
c.638G>A (p.Trp213Ter)
n.3235G>A
n.142G>A
c.617G>A (p.Trp206Ter)
n.704G>A (p.Trp235Ter)
c.*306G>A (p.=)
n.825G>A (p.=)
c.695G>A (p.Trp232Ter)
c.284G>A (p.Trp95Ter)
ClinVar
5g.162103961G>CCA362185122GABRG2n.666G>C
c.824G>C (p.Trp275Ser)
n.595G>C
n.787G>C
c.419G>C (p.Trp140Ser)
c.704G>C (p.Trp235Ser)
n.766G>C
n.581G>C
c.95G>C (p.Trp32Ser)
n.632G>C (p.Trp211Ser)
c.107+35855G>C (p.=)
c.638G>C (p.Trp213Ser)
n.3235G>C
n.142G>C
c.617G>C (p.Trp206Ser)
n.704G>C (p.Trp235Ser)
c.*306G>C (p.=)
n.825G>C (p.=)
c.695G>C (p.Trp232Ser)
c.284G>C (p.Trp95Ser)
5g.162103961G=CA1596365222GABRG2n.666G=
c.824G= (p.Trp275=)
n.595G=
n.787G=
c.419G= (p.Trp140=)
c.704G= (p.Trp235=)
n.766G=
n.581G=
c.95G= (p.Trp32=)
n.632G= (p.Trp211=)
c.107+35855G= (p.=)
c.638G= (p.Trp213=)
n.3235G=
n.142G=
c.617G= (p.Trp206=)
n.704G= (p.Trp235=)
c.*306G= (p.=)
n.825G= (p.=)
c.695G= (p.Trp232=)
c.284G= (p.Trp95=)
5g.162103961G>TCA362185123GABRG2n.666G>T
c.824G>T (p.Trp275Leu)
n.595G>T
n.787G>T
c.419G>T (p.Trp140Leu)
c.704G>T (p.Trp235Leu)
n.766G>T
n.581G>T
c.95G>T (p.Trp32Leu)
n.632G>T (p.Trp211Leu)
c.107+35855G>T (p.=)
c.638G>T (p.Trp213Leu)
n.3235G>T
n.142G>T
c.617G>T (p.Trp206Leu)
n.704G>T (p.Trp235Leu)
c.*306G>T (p.=)
n.825G>T (p.=)
c.695G>T (p.Trp232Leu)
c.284G>T (p.Trp95Leu)
5g.162103962G>ACA131112331GABRG2n.667G>A
c.825G>A (p.Trp275Ter)
n.596G>A
n.788G>A
c.420G>A (p.Trp140Ter)
c.705G>A (p.Trp235Ter)
n.767G>A
n.582G>A
c.96G>A (p.Trp32Ter)
n.633G>A (p.Trp211Ter)
c.107+35856G>A (p.=)
c.639G>A (p.Trp213Ter)
n.3236G>A
n.143G>A
c.618G>A (p.Trp206Ter)
n.705G>A (p.Trp235Ter)
c.*307G>A (p.=)
n.826G>A (p.=)
c.696G>A (p.Trp232Ter)
c.285G>A (p.Trp95Ter)
dbSNP

Number of alleles fetched